Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2007 Nov;122(3-4):301-10.
doi: 10.1007/s00439-007-0391-6. Epub 2007 Jul 3.

Variation in estimated recombination rates across human populations

Jan Graffelman  1 , David J Balding, Anna Gonzalez-Neira, Jaume Bertranpetit
Affiliations

Variation in estimated recombination rates across human populations

Jan Graffelman et al. Hum Genet. 2007 Nov.

Abstract

Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns of variability across populations. Direct measurement of recombination rates remains infeasible on a large scale, and population-genetic approaches can be imprecise, and are affected by demographic history. Reports to date have suggested broad similarity in recombination rates at large genomic scales and across human populations. Here, we examine recombination rate estimates at a finer population and genomic scale: 28 worldwide populations and 107 SNPs in a 1 Mb stretch of chromosome 22q. We employ analysis of variance of recombination rate estimates, corrected for differences in effective population size using genome-wide microsatellite mutation rate estimates. We find substantial variation in fine-scale rates between populations, but reduced variation within continental groups. All effects examined (SNP-pair, region, population and interactions) were highly significant. Adjustment for effective population size made little difference to the conclusions. Observed hotspots tended to be conserved across populations, albeit at varying intensities. This holds particularly for populations from the same region, and also to a considerable degree across geographical regions. However, some hotspots appear to be population-specific. Several results from studies on the population history of humans are in accordance with our analysis. Our results suggest that between-population variation in DNA sequences may underly recombination rate variation.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Genetics. 2003 Dec;165(4):2213-33 - PubMed
    1. Science. 2002 Apr 12;296(5566):261-2 - PubMed
    1. Mol Cell. 1998 Aug;2(2):267-73 - PubMed
    1. Science. 2004 Apr 23;304(5670):581-4 - PubMed
    1. Science. 2002 Dec 20;298(5602):2381-5 - PubMed

Publication types

LinkOut - more resources